Canonical Allele Identifier: CA343988024

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716355G>T (hg19) ; chr1:g.196747225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747225G>T , CM000663.2:g.196747225G>T	GRCh38
NC_000001.10:g.196716355G>T , CM000663.1:g.196716355G>T	GRCh37
NC_000001.9:g.194982978G>T	NCBI36
NG_007259.1:g.100215G>T , LRG_47:g.100215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4636G>T
ENST00000695970.1:c.3434G>T	ENSP00000512297.1:p.Arg1145Leu
ENST00000695971.1:c.3587G>T	ENSP00000512298.1:p.Arg1196Leu
ENST00000695972.1:c.*685G>T	ENSP00000512299.1:n.*685G>T
ENST00000695973.1:c.*1972G>T	ENSP00000512300.1:n.*1972G>T
ENST00000695974.1:c.3431G>T	ENSP00000512301.1:p.Arg1144Leu
ENST00000695975.1:c.*1735G>T	ENSP00000512302.1:n.*1735G>T
ENST00000695976.1:c.3419G>T	ENSP00000512303.1:p.Arg1140Leu
ENST00000695981.1:c.3580+28G>T	ENSP00000512306.1:n.3580+28G>T
ENST00000695984.1:c.1616G>T	ENSP00000512309.1:p.Arg539Leu
ENST00000695986.1:c.*3259G>T	ENSP00000512311.1:n.*3259G>T
ENST00000695990.1:n.642G>T
ENST00000696026.1:c.*1890G>T	ENSP00000512335.1:n.*1890G>T
ENST00000696027.1:c.3602G>T	ENSP00000512336.1:p.Arg1201Leu
ENST00000696028.1:c.3536G>T	ENSP00000512337.1:p.Arg1179Leu
ENST00000696029.1:c.3602G>T	ENSP00000512338.1:p.Arg1201Leu
ENST00000696031.1:c.*3126G>T	ENSP00000512340.1:n.*3126G>T
ENST00000696032.1:c.3580+28G>T	ENSP00000512341.1:n.3580+28G>T
ENST00000696033.1:c.1160-32572G>T	ENSP00000512342.1:n.1160-32572G>T
ENST00000367429.9:c.3608G>T MANE Select	ENSP00000356399.4:p.Arg1203Leu
ENST00000367429.8:c.3608G>T	ENSP00000356399.4:p.Arg1203Leu
ENST00000466229.5:n.6706G>T
NM_000186.3:c.3608G>T , LRG_47t1:c.3608G>T	NP_000177.2:p.Arg1203Leu
XR_001737134.2:n.3794G>T
NM_000186.4:c.3608G>T MANE Select	NP_000177.2:p.Arg1203Leu